ClinGen Allele Registry
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Canonical Allele Identifier:
CA2381739128
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000021.9:g.22259268C= , CM000683.2:g.22259268C=
GRCh38
NC_000021.8:g.23631588C= , CM000683.1:g.23631588C=
GRCh37
NC_000021.7:g.22553459C=
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
XR_001754978.1:n.221+46455C=
Search 100 bp 5'
Search 100 bp 3'